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Aliases for TBC1D19 Gene

Aliases for TBC1D19 Gene

  • TBC1 Domain Family Member 19 2 3 5
  • TBC1 Domain Family, Member 19 2

External Ids for TBC1D19 Gene

Previous GeneCards Identifiers for TBC1D19 Gene

  • GC04P026262
  • GC04P025923

Summaries for TBC1D19 Gene

GeneCards Summary for TBC1D19 Gene

TBC1D19 (TBC1 Domain Family Member 19) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot for TBC1D19 Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

Additional gene information for TBC1D19 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D19 Gene

Genomics for TBC1D19 Gene

Regulatory Elements for TBC1D19 Gene

Enhancers for TBC1D19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H026139 1 Ensembl ENCODE 10.7 -435.0 -435009 3.9 PKNOX1 ZFP64 ZNF133 ZNF266 ZIC2 ZNF697 POLR2A MAFK NR3C1 ATF2 ZCCHC4 ANAPC4 RBPJ TBC1D19 LOC105374541 LOC645481
GH04H026582 1.4 ENCODE dbSUPER 7.5 +7.5 7511 2.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF302 ZNF143 TBC1D19 PIR55333
GH04H026647 0.5 ENCODE 14.6 +71.7 71667 1 HMBOX1 POU5F1 USF2 TBC1D19 CCKAR PIR55333
GH04H026269 0.6 dbSUPER 10.8 -306.7 -306695 1 ZNF555 ZFP64 ZNF623 ZNF781 ZNF518A ZNF697 TBC1D19 ZCCHC4 GC04P026244 LOC105374542
GH04H026613 0.5 ENCODE dbSUPER 10.7 +37.0 36977 0.2 TBC1D19 PIR55333
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D19 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TBC1D19 Gene

Genomic Locations for TBC1D19 Gene
chr4:26,576,437-26,769,771
(GRCh38/hg38)
Size:
193,335 bases
Orientation:
Plus strand
chr4:26,578,059-26,756,973
(GRCh37/hg19)

Genomic View for TBC1D19 Gene

Genes around TBC1D19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D19 Gene

Proteins for TBC1D19 Gene

  • Protein details for TBC1D19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5T2-TBC19_HUMAN
    Recommended name:
    TBC1 domain family member 19
    Protein Accession:
    Q8N5T2
    Secondary Accessions:
    • B9A6M0
    • Q9NUX1

    Protein attributes for TBC1D19 Gene

    Size:
    526 amino acids
    Molecular mass:
    60208 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TBC1D19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D19 Gene

Post-translational modifications for TBC1D19 Gene

  • Ubiquitination at posLast=234234
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBC1D19 Gene

Domains & Families for TBC1D19 Gene

Gene Families for TBC1D19 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TBC1D19 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D19: view

No data available for UniProtKB/Swiss-Prot for TBC1D19 Gene

Function for TBC1D19 Gene

Molecular function for TBC1D19 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

Phenotypes From GWAS Catalog for TBC1D19 Gene

Gene Ontology (GO) - Molecular Function for TBC1D19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 22354992
genes like me logo Genes that share ontologies with TBC1D19: view
genes like me logo Genes that share phenotypes with TBC1D19: view

miRNA for TBC1D19 Gene

miRTarBase miRNAs that target TBC1D19

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D19 Gene

Localization for TBC1D19 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D19 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D19 Gene

Pathways & Interactions for TBC1D19 Gene

SuperPathways for TBC1D19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D19: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D19 Gene

Drugs & Compounds for TBC1D19 Gene

No Compound Related Data Available

Transcripts for TBC1D19 Gene

Unigene Clusters for TBC1D19 Gene

TBC1 domain family, member 19:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D19 Gene

No ASD Table

Relevant External Links for TBC1D19 Gene

GeneLoc Exon Structure for
TBC1D19
ECgene alternative splicing isoforms for
TBC1D19

Expression for TBC1D19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBC1D19 Gene

This gene is overexpressed in Breast (52.6) and NK cells (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D19 Gene



Protein tissue co-expression partners for TBC1D19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D19 Gene:

TBC1D19

SOURCE GeneReport for Unigene cluster for TBC1D19 Gene:

Hs.479403

Evidence on tissue expression from TISSUES for TBC1D19 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TBC1D19: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D19 Gene

Orthologs for TBC1D19 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D19 34 33
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D19 33 34
  • 95.74 (n)
cow
(Bos Taurus)
Mammalia TBC1D19 33 34
  • 95.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D19 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d19 33
  • 92.65 (n)
mouse
(Mus musculus)
Mammalia Tbc1d19 33 16 34
  • 91.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D19 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D19 34 33
  • 83.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D19 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d19 33
  • 74.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34245 33
zebrafish
(Danio rerio)
Actinopterygii tbc1d19 33 34
  • 70.87 (n)
zgc63795 33
fruit fly
(Drosophila melanogaster)
Insecta CG7742 33 34
  • 49.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008377 33
  • 48.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6389 34
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12660 33
Species where no ortholog for TBC1D19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D19 Gene

ENSEMBL:
Gene Tree for TBC1D19 (if available)
TreeFam:
Gene Tree for TBC1D19 (if available)

Paralogs for TBC1D19 Gene

No data available for Paralogs for TBC1D19 Gene

Variants for TBC1D19 Gene

Sequence variations from dbSNP and Humsavar for TBC1D19 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000003672 -- 26,771,590(+) ATGAT(C/T)CCACT intron-variant
rs1000009745 -- 26,672,676(+) TTGAA(G/T)ATTCT intron-variant
rs10000211 -- 26,627,038(+) TCCCC(A/C/T)CTCCG intron-variant
rs10000377 -- 26,627,043(+) cctcc(A/G)cccac intron-variant
rs1000050246 -- 26,763,149(+) CTTGT(A/G)TGGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D19 Gene

Variant ID Type Subtype PubMed ID
nsv524115 CNV loss 19592680
nsv522423 CNV gain 19592680
nsv477816 CNV novel sequence insertion 20440878
nsv472477 CNV novel sequence insertion 20440878
nsv470021 CNV loss 18288195
nsv1117375 CNV tandem duplication 24896259
esv3431385 CNV duplication 20981092
esv3356255 CNV insertion 20981092
esv2678106 CNV deletion 23128226

Variation tolerance for TBC1D19 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D19 Gene

Disorders for TBC1D19 Gene

Relevant External Links for TBC1D19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D19

No disorders were found for TBC1D19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D19 Gene

Publications for TBC1D19 Gene

  1. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for TBC1D19 Gene

Sources for TBC1D19 Gene

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